Occipital pachygyria and polymicrogyria
Synonyms: Occipital MCD | Occipital malformations of cortical development
A rare genetic cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri associated with an excessive number of small irregular gyri with increased cortical thickness located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic absence atypical absence vision loss myoclonic-atonic generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Occipital pachygyria and polymicrogyria?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.